ORPHA:684
Paramyotonia congenita of Von Eulenburg
Also known as: Paramyotonia congenita
Publications
812
83.6th percentile
Trials
5
Interventional, condition-specific
Researchers
1,053
Distinct authors in sample
Gene link
SCN4A
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic skeletal muscle ion channel disorder, part of the non-dystrophic myotonias, characterized by exercise and/or cold-exacerbated myotonia.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008195
- OMIM:168300
- UMLS:C0221055
- NCIT:C122790
Additional Mondo synonyms (2)
paramyotonia congenita · paramyotonia congenita of Von Eulenburg
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — SCN4A
- LiteraturePresent
812 matched papers (277 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
5 matched on ClinicalTrials.gov (1 recruiting in sample)
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (SCN4A).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
812
812 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
812 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
277 in the last 10 years · high confidence · 83.6th percentile (publications denominator)
Phrase hits: 812 · MeSH hits: 0
Who's working on it?
1,053
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Hanna MG16 papers · 2025
Queen Square Centre for Neuromuscular Diseases, University College London, London, UK.
Papers in Europe PMC - 02Vivekanandam V9 papers · 2025
MRC Centre for Neuromuscular Diseases, Department of Neuromuscular diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Papers in Europe PMC - 03Altamura C8 papers · 2025
Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy.
Papers in Europe PMC - 04Desaphy JF8 papers · 2025
Department of Biomedical Sciences and Human Oncology, School of Medicine, University of Bari Aldo Moro, 70124 Bari, Italy.
Papers in Europe PMC - 05Matthews E8 papers · 2022
Institute of Neurology and Medical Research Council Centre for Neuromuscular Disease, National Hospital for Neurology and Neurosurgery, University College London, London, England.
Papers in Europe PMC - 06Maggi L7 papers · 2024
Neuroimmunology and Neuromuscular Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Papers in Europe PMC - 07Cannon SC6 papers · 2024
Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, United States.
Papers in Europe PMC - 08Fontaine B6 papers · 2021
INSERM U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière - ICM and National Reference Center for Muscular Channelopathies, University Hospital Pitié-Salpêtrière, France.
Papers in Europe PMC - 09Vicart S6 papers · 2026
Inserm U1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière (ICM), F-75013, Paris, France.
Papers in Europe PMC - 10Li Y5 papers · 2022
Department of Neurology, Peking University First Hospital, Beijing, China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
5
interventional trials for this specific condition
5 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
5 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 87.9th percentile).
high confidence · 87.9th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
5 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07183059·NOT YET RECRUITING·A Single Center Prospective Study in an Estimated 570 Patients Who Underwent Genetic Screening at UZ Brussel in the Context of a Primary Cardiac Arrhythmia. Patients Showing a Variant Class 3,4 or 5 in SCN4A or CLCN1 Will Undergo a Clinical and Electrophysiological Review After IC.
Conditions: Non Dystrophic Myotonia · Arrythmia, Cardiac·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Paramyotonia congenita of Von Eulenburg" OR "Paramyotonia congenita of the Von Eulenburg" OR "Paramyotonia congenita"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Paramyotonia congenita of Von Eulenburg" OR "Paramyotonia congenita of the Von Eulenburg" OR "Paramyotonia congenita" OR "SCN4A"
Recall-expansion terms: SCN4A
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 5 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T14:56:11.000Z